ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.1854A>G (p.Arg618=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003050706 SCV003444113 uncertain significance Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-06-11 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs771976516, gnomAD 0.02%). This sequence change affects codon 618 of the SDCCAG8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SDCCAG8 protein. It affects a nucleotide within the consensus splice site.

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